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Volumn 51, Issue 5, 1998, Pages 1444-1447

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME B; MITOCHONDRIAL DNA;

EID: 0031744009     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.5.1444     Document Type: Article
Times cited : (76)

References (10)
  • 1
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    • Mitochondrial encephalomyopathies
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heinemann
    • DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The molecular and genetic basis of neurological disease. 2nd ed. Boston: Butterworth-Heinemann, 1997:201-235.
    • (1997) The Molecular and Genetic Basis of Neurological Disease. 2nd Ed. , pp. 201-235
    • DiMauro, S.1    Bonilla, E.2
  • 2
    • 0021794963 scopus 로고
    • Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy
    • Arnold D, Mathews PM, Radda GK. Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy. Ann Neurol 1995;18:189-196.
    • (1995) Ann Neurol , vol.18 , pp. 189-196
    • Arnold, D.1    Mathews, P.M.2    Radda, G.K.3
  • 3
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1980;290:457-465.
    • (1980) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 4
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 5
    • 0027145131 scopus 로고
    • Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis
    • Moraes CT, Ciacci F, Bonilla E, et al. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. J Clin Invest 1993;92:2906-2915.
    • (1993) J Clin Invest , vol.92 , pp. 2906-2915
    • Moraes, C.T.1    Ciacci, F.2    Bonilla, E.3
  • 7
    • 0030271757 scopus 로고    scopus 로고
    • A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
    • Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G, Mousson B. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 1996;10:389-391.
    • (1996) Mol Cell Probes , vol.10 , pp. 389-391
    • Dumoulin, R.1    Sagnol, I.2    Ferlin, T.3    Bozon, D.4    Stepien, G.5    Mousson, B.6
  • 9
    • 0024318517 scopus 로고
    • Evolutionary conservation of protein regions in the protomotive cytochrome b and their possible roles in redox catalysis
    • Howell N. Evolutionary conservation of protein regions in the protomotive cytochrome b and their possible roles in redox catalysis. J Mol Evol 1989;29:157-169.
    • (1989) J Mol Evol , vol.29 , pp. 157-169
    • Howell, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.